Volume 8, Issue 1

Background Fetal supraventricular tachycardia (SVT) is a reversible cause of fetal hydrops, with better outcomes if detected early and reverted in utero . Modern imaging allows accurate diagnosis and maternal anti-arrhythmic therapy can be practiced ensuring in utero cardioversion. Case presentation We present a case of preterm fetal hydrops due to SVT successfully reverted in utero by multidrug maternal therapy. The mother presented to our tertiary care hospital at 32 weeks’ gestation with a fetal heart rate of 229 beats/min with evidence of mild fetal pericardial effusion and ascites. Under strict maternal monitoring, the treatment was started with parenteral digoxin. Flecainide, sotalol and amiodarone were introduced sequentially based on the response until cardioversion was achieved at 35 weeks with no maternal side effects. She labored spontaneously and delivered a 2.6 kg baby boy 4 days after the successful cardioversion. The baby was discharged home on day 7 on oral amiodarone with outpatient follow-up. Digoxin monotherapy failed in our case, possibly due to evidence of hydrops and a sequential multi-drug therapy was required for an extended duration of up to 2 weeks to achieve cardioversion successfully. Conclusions Our report suggests that multi-drug therapy is more successful in cases of SVT with fetal hydrops, titrated according to fetal response and maternal tolerance, although a prolonged period of therapy might be required to achieve the desired clinical effect.

Background Arthrogryposis multiplex congenita is the presence of multiple congenital contractures of two or more body parts. Congenital cytomegalovirus (CMV) infection is a rare etiology of arthrogryposis. Case presentation We report a case of intrauterine fetal akinesia and arthrogryposis multiplex congenita delivered at term with subsequent neonatal demise. Placental pathology and autopsy revealed congenital CMV infection. Conclusions Evaluation for potential CMV infection is an important part of the arthrogryposis evaluation which is often missed due to lack of maternal infectious symptoms during pregnancy.

Background Chromosome abnormalities are a frequent finding in prenatal invasive testing for fetal malformations and/or growth retardation. Case presentation We present a case of low level (8%) mosaic trisomy 15 detected on amniocentesis after fetal heart anomalies and IUGR (intrauterine growth retardation) were found on routine scan. Postnatal karyotype confirmed a very low level (2%) mosaicism in the skin but not in blood lymphocytes or in the urine. Methylation specific testing of chromosome 15 showed maternal uniparental disomy and consequently the newborn was diagnosed with Prader-Willi syndrome (PWS). Conclusions This case illustrates the need of further genetic testing in all trisomy 15 mosaicisms detected in prenatal invasive testing in order to screen for PWS, a more frequent entity than trisomy 15, altogether providing appropriate genetic counseling and adequate clinical management. The recommendation is applicable to prenatally detected mosaic trisomies of other chromosomes carrying imprinted genes, such as 7, 11 and 14.

Background True umbilical cord knots are common incidental findings at birth, however, there are limited reports of antenatal diagnosis. True knots are mostly asymptomatic; however, cord related accidents may be encountered. Case presentation We present two cases we diagnosed and followed-up antenatally. We reviewed previous literature and found 16 reports of antenatal diagnosis. In addition to foregoing established risk factors, we noticed an increased risk at first trimester screening in our cases. Conclusions Modern ultrasonography (USG) technology applications are valuable for monitoring knot architecture and compression. We propose monitoring the baby with daily kick counts and biweekly cardiotocography after 28–30 weeks of gestation. Weekly umbilical Doppler pulsatility (PI) measurements of afferent and efferent loops with respect to the gestational age, aids in monitoring the tightness of the knot. The timing and route of delivery should be necessitated by obstetric indications. Vaginal delivery is possible under continuous fetal monitorization during labor.

We present a term infant with the unusual findings of malrotation in combination with both duodenal and pyloric webs of windsock type, thus masquerading as postoperative bowel dysfunction and ultimately requiring three laparotomies. To the best of our knowledge these three findings in combination have not been previously reported. The dilemma of whether to perform a duodenotomy or not during malrotation repair and the importance of instrumenting the intestine from the duodenotomy site in both retrograde and antegrade directions are discussed.

Background A discrepancy between the fetal karyotype and the appearance of genitalia on ultrasound can be a diagnostic challenge. In these cases, it is difficult to shorten the extensive list of differential diagnoses without information on internal anatomy and endocrine profile. Case presentation Here, we describe a diagnosis of 17-hydroxylase/17,20-lyase deficiency (17OHD), which was suspected based on low maternal serum estriol in the setting of 46,XY genitalia discordance. Through collaboration between maternal-fetal medicine and disorders of sex development (DSD) teams, the patient was counseled about the diagnosis and postnatal management plans were made. Conclusions This case illustrates how prenatal diagnosis of this rare condition led to reduced parental stress and seamless transition to postnatal care.

Background Uterine synechia are bands of fibrous tissue that when seen on prenatal ultrasound are not felt to pose significant risk to a fetus outside of early pregnancy loss. On the contrary, amniotic bands are diagnosed when bands of amniotic tissue are found to entrap and possible amputate involved fetal parts. Case presentation Ultrasound imaging demonstrated a twin pregnancy affected by entrapment of twin B’s head in a uterine synechium versus an amniotic band at 11 weeks + 0 days. The entrapment persisted until the second trimester. After a review of still images and video clips with a fetal surgeon, the patient was scheduled for possible fetal surgery. Upon arrival at 16 weeks + 0 days, the entrapment was observed to have spontaneously resolved. The patient experienced preterm premature rupture of membranes at 17 weeks + 6 days, and developed chorioamnionitis at 18 weeks + 5 days. Shortly after diagnosis with chorioamnionitis, she delivered spontaneously at 18 weeks + 5 days. Postnatal hysteroscopy demonstrated uterine synechium at the uterine fundus, which was resected. Conclusions This is the first case of fetal head entrapment by a uterine synechium.

Background Bilateral renal agenesis has uniformly been a lethal diagnosis in the perinatal or neonatal period. With the advent of more advanced renal replacement therapy as a bridge to renal transplantation, amnioinfusion has been explored at our center as a way to prevent lethal pulmonary hypoplasia secondary to oligohydramnios. Case presentation We describe two cases of bilateral renal agenesis with serial amnioinfusion during pregnancy. The families opted for full neonatal intervention and post-natal renal support. While lethal pulmonary hypoplasia was avoided, early and refractory hypotension limited the ability to perform dialysis in these neonates. Conclusions Our limited experience shows that barriers to care such as lethal respiratory failure and technical limitations of early dialysis are not the only barriers prohibiting care for this population.

Polydactyly refers to a group of congenital anomalies characterized by the presence of more than five fingers or toes per extremity. Mirror foot is an extreme and rare form of foot polydactyly characterized by the presence of extra tarsal bones and digits and is most often an isolated finding recognized at birth. Here, we report the first case of mirror foot diagnosed prenatally at the time of routine second trimester ultrasound. This early diagnosis allowed for thorough counseling that provided the family adequate time to process the diagnosis and prepare for neonatal management.

Objectives To report a neonate with clinical findings consistent with thanatophoric dysplasia (TD). Only a few cases of this rare and lethal skeletal disorder have been reported in South-East Asia. Case presentation A 37-year-old Asian female, fourth gravida at 39 weeks, presented to our hospital for an elective cesarean section due to polyhydramnios, frank breech and gestational hypertension. The father was a 42-year-old Asian male. There was no history of rashes, fever, alcohol intake, substance drug abuse, smoking habit or radiation exposure. Ultrasound (US) of 34-weeks’ gestation found a baby with frontal bossing, prominent temporal lobe, clover-skull and low nasal bridge. The thoracic diameter was smaller than the abdominal diameter. Short limbs without bowing were noted in femur and humeral bones. The patient delivered a baby boy, 4115 g, APGAR scores were 5 and 7 at 1 and 5 min. The baby had a dysmorphic face, frontal bossing, low nasal bridge, low-set ears and short neck. The thorax was narrow and abdomen was protuberant. The upper and lower proximal limbs appeared short. A chest X-ray revealed short, curved ribs and opacification of both lungs. He had respiratory distress shortly after birth and had persistent severe respiratory distress despite adequate mechanical ventilation. On the third day, he had cardiac arrest; resuscitation was not done due to family request. The baby was declared deceased due to cardiopulmonary failure related to his congenital anomaly. Conclusions Ultrasonography could readily indicate TD prenatally. The pregnancy can continue up to late third trimester without miscarriage. Most of the neonates die in utero ; those who survive are dependent on ventilator.

Objectives To establish a practical and valid method for the diagnosis of twin gestation in uteri with Müllerian anomalies in the first trimester of pregnancy. Case presentation This was a prospective cohort study. Two cases with congenital uterine anomalies were followed prospectively from 7 weeks of gestation and compared to eight controls. The longitudinal to transverse uterine lumen diameter ratio (LTDR) was measured in mid-sagittal and coronal planes. The LTDR was compared between unicornuate and didelphys uteri to normal uteri controls weekly. The area under the curve for the coronal and sagittal planes were 1.000 and 0.823, respectively. For the coronal plane, an LTDR of 1.15 was selected as optimal for predicting uteri with a Müllerian anomaly, with a sensitivity of 100%, specificity of 100%. An LTDR of 1.68 in the sagittal plane was selected as optimal for predicting anomalous uteri, with a sensitivity of 100%, specificity of 73%. Conclusions LTDR ratios measured in mid sagittal and coronal planes of unicornuate and didelphys uteri with twin gestation during the first trimester of pregnancy are highly predictive of Müllerian anomalies. Early diagnosis of uterine anomalies could provide a reference to initiate earlier meticulous follow-up.

Background The objective of the study was to present the rupture of velamentous vessels as a rare but dangerous complication of pregnancy associated with high neonatal risk. Diagnosis of velamentous insertion of umbilical vessels is important to recognize because of the possibility of their rupture during labor. If the condition remains unrecognized, the most important step during labor is prompt and timely treatment of the multidisciplinary team in order to reduce fetal and neonatal mortality and morbidity. Case presentation We present two cases of ruptured velamentous vessels, both with good outcomes: in the first case the baby was delivered vaginally after a spontaneous rupture of the velamentous vessels, and in the second case an emergency cesarean section was performed. Conclusions Although bleeding caused by the rupture of velamentous vessels is not frequent, the consequences can be serious. The proper diagnosis of the umbilical cord insertion is mandatory during the mid-trimester anomaly scan, but in most cases the condition remains unrecognized until delivery. In the case of a rupture, a prompt reaction of the medical team is crucial in order to save the baby. Sometimes only an urgent 0 Rh negative blood transfusion can avoid a poor neonatal outcome.

Background Congenital goiter constitutes a rare cause of congenital neck masses. Goitrous enlargement can be associated with serious airway obstruction. Case description We report a term, girl baby with a large asymmetrical neck mass who presented on day 2 of life. Clinical examination revealed stridor and local examination showed an asymmetric nodular firm swelling with no signs of inflammation. The computerized tomography of the neck and fine needle aspiration cytology (FNAC) confirmed the swelling as being a multinodular goiter. The thyroid function test (TFT) was suggestive of hypothyroid status. Further investigations revealed the cause as being dyshormonogenesis probably secondary to a thyroglobulin synthetic defect. The baby was started on levothroxine supplementation (13 μg/kg/day); neck swelling markedly reduced with normalization of TFT over the next 3 weeks. To the best of our knowledge this is the first reported case of the presence of multinodularity in a baby with congenital goiter.